肾-虹膜缺损综合征：一例新的PAX2基因突变报告。
Renal-coloboma syndrome: report of a novel PAX2 gene mutation.
作者信息
Chung G W, Edwards A O, Schimmenti L A, Manligas G S, Zhang Y H, Ritter R
机构信息
Department of Ophthalmology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390-0957, USA.
出版信息
Am J Ophthalmol. 2001 Dec;132(6):910-4. doi: 10.1016/s0002-9394(01)01231-4.
PURPOSE
To report a novel sporadic PAX2 gene mutation in a child with atypical bilateral optic nerve coloboma and congenital renal hypoplasia.
DESIGN
Observational case report and experimental study.
METHODS
Mutational analysis of the PAX2 gene in a family.
RESULTS
A 9-year-old patient with a history of renal transplantation for congenital renal hypoplasia was found to have bilateral optic nerve coloboma during ophthalmic examination for cytomegalovirus retinitis. A previously unreported mutation in exon 2, delT 602 leading to a prematurely truncated protein was identified in the child but in neither of her parents, demonstrating a de novo mutation or germline mosaicism.
CONCLUSIONS
The causal relationship between PAX2 gene mutations and renal-coloboma syndrome is further supported by this novel mutation. Awareness of the systemic associations with optic nerve abnormalities and the ocular findings in syndromic renal diseases will facilitate the management of these highly variable disorders.
目的
报告一名患有非典型双侧视神经缺损和先天性肾发育不全儿童中一种新的散发性PAX2基因突变。
设计
观察性病例报告和实验研究。
方法
对一个家族的PAX2基因进行突变分析。
结果
一名因先天性肾发育不全接受肾移植的9岁患者，在因巨细胞病毒性视网膜炎进行眼科检查时被发现患有双侧视神经缺损。在该儿童中发现了外显子2中一个先前未报道的突变，delT 602，导致蛋白质过早截短，但在其父母中均未发现，表明这是一个新发突变或生殖系嵌合体。
结论
这种新突变进一步支持了PAX2基因突变与肾-缺损综合征之间的因果关系。认识到视神经异常的全身关联以及综合征性肾病的眼部表现将有助于管理这些高度可变的疾病。
Zotero 插件